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Meet the curator of the gene pool

This article was first published in the July 2015 issue of WIRED magazine. Be the first to read WIRED's articles in print before they're posted online, and get your hands on loads of additional content by subscribing online

Maria Bitner-Glindzicz is a genome hunter. Her goal: to help gather 100,000 genomes from around the UK to diagnose and cure rare genetic diseases and cancer. She is a clinical and molecular geneticist at Great Ormond Street Hospital, where she treats children and adults with rare inheritable conditions such as genetic deafness. "These are diseases that affect less than one in 2,000 people but cause symptoms that we can't figure out -- learning disabilities, complex epilepsy, kidney problems, cardiac issues and early-onset dementia," she says. "Many of the children we see don't have a diagnosis yet. We can't say to them, 'This is the cause of your condition and this is how it came about'. And we can't tell their parents that it might happen again to their other children. We don't know the cause, so we don't have any information."

To grapple with this, Genomics England has launched the 100,000 Genomes Project as a three-year nationwide initiative to collect and analyse the genomes of families with rare syndromes and patients with cancer. Bitner-Glindzicz, 52, has recruited 1,000 patients in the North Thames region of England as part of a pilot. There have already been diagnoses, including two brothers with inherited nerve damage due to a newly discovered gene mutation; they are now set to join a treatment trial. Studying rare diseases also gives insight into common ones. "For instance, causes of some rare genetic skin diseases have helped us better understand causes of eczema," Bitner-Glindzicz says. "What we hope to understand here is what's going on in the human body generally."

This article was first published in the July 2015 issue of WIRED magazine